Course : ACMG Genomics Case Conference March 2016

Clinical Utility of Whole Exome Sequencing in a Patient with Recurrent Infections

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During The ACMG Genomics Case Conferences, a team from select institutions will present and lead discussions on an intriguing, complex and/or difficult patient case in the area of genomics.  The primary focus of these case conferences will be on the adaptation of exome or genome sequencing technology in clinical care. There are four overall learning objectives that will be covered in each session.

Session Description

During this session, the clinical utility of exome sequencing is highlighted through a case of suspected primary ciliary dyskinesia (PCD) with unexpected molecular findings. This case is an example of a scenario where molecular diagnosis drives the management and treatment of a patient. In reviewing this case, presenters will discuss exome filtration strategies, the evaluation and classification of exome-level variants in the context of reported patient phenotypes, and the benefits of physician involvement in the exome interpretation process.

Target audience

  1. Clinical geneticists; genetic counselors; pediatric, obstetric, and maternal-fetal specialists; and all medical practitioners who are providing comprehensive diagnostic, management, and counseling services for patients with, or at risk for, genetically influenced health problems.
  2. Laboratory directors and technicians who conduct genetic testing, researchers involved in the discovery of genetic disorders and treatments and any healthcare and public health professionals who have an in interest medical and clinical genetics and genomics.

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Educational Credits Available
Amount of Credits: 1 (CME)
ACMG Members and ACMG Trainees free
ACMG Member with educational credits ($15)
Non-members ($30)
Non-members with educational credits ($55)


At the conclusion of the series, participants should be able to:

1. Describe the clinical utility of whole exome/whole genome sequencing tests

2. Identify clinical indications for whole exome/whole genome sequencing

3. List determinants used to assess the probability of a variant’s pathogenicity

4. Elaborate on the importance of pre-test counseling and consent

Session learning objectives

At the conclusion of the session, participants should be able to:

  1. Discuss the utility of whole exome sequencing in informing patient management in the pulmonary clinic
  2. Compare differing clinical exome filtration strategies
  3. Describe the spectrum of genetic etiologies associated with common pulmonary phenotypes, i.e. recurrent infection
  4. Explain how clinical labs utilize phenotypic information from providers in exome data interpretation

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